Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001362036 | SCV001558032 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2024-02-29 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the GARS mRNA. The next in-frame methionine is located at codon 55. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1053662). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV004036821 | SCV002754710 | uncertain significance | not specified | 2020-02-27 | criteria provided, single submitter | clinical testing | The p.M1? variant (also known as c.3G>T) is located in coding exon 1 of the GARS gene and results from a G to T substitution at nucleotide position 3. This alters the methionine residue at the initiation codon. Variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame; however there is an alternate in-frame methionine 55 amino acids from the initiation site and the significance of the N-terminus for this protein is not well established. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |